NEU1, neuraminidase 1, 4758

N. diseases: 207; N. variants: 28
Disease: Neuraminidase 1 deficiency ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs193922915
rs193922915 		0.925 0.160 6 31859879 missense variant A/G snv 7.0E-06
CUI: C0268228
Disease: Neuraminidase 1 deficiency
Neuraminidase 1 deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs28940583
rs28940583 		0.882 0.160 6 31860588 missense variant C/T snv 5.6E-05 1.7E-04
CUI: C0268228
Disease: Neuraminidase 1 deficiency
Neuraminidase 1 deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2010 2010